Identification of a novel splice-site mutation of the BRCA1 gene in two breast cancer families: screening reveals low frequency in Icelandic breast cancer patients.
Bergthorsson
J T
JT
Department of Pathology, University Hospital of Iceland, Reykjavik.
Jonasdottir
A
A
Johannesdottir
G
G
Arason
A
A
Egilsson
V
V
Gayther
S
S
Borg
A
A
Hakanson
S
S
Ingvarsson
S
S
Barkardottir
R B
RB
D000483:Alleles; D017398:Alternative Splicing / Q000235:genetics*; D019313:BRCA1 Protein / Q000235:genetics*; D001483:Base Sequence; D001943:Breast Neoplasms / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons; D005192:Family Health; D005260:Female; D005787:Gene Frequency; D005820:Genetic Testing; D006801:Humans; D007055:Iceland; D007438:Introns; D009154:Mutation; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational
D019313:BRCA1 Protein; D004247:DNA